GIPC PDZ Domain-Containing Family, Member 3

Alternative Names

  • GIPC3
  • GAIP C-Terminus-Interacting Protein 3
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OMIM Number

608792

NCBI Gene ID

126326

Uniprot ID

Q8TF64

Length

8,064 bases

No. of Exons

6

Protein Name

PDZ domain-containing protein GIPC3

Molecular Mass

33982 Da

Amino Acid Count

312

Genomic Location

chr19:3,585,478-3,593,541

Gene Map Locus
19p13.3

Description

The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_133261.3:c.122C>ASaudi ArabiaNC_000019.10:g.3585719C>ALikely Pathogenic, PathogenicLikely PathogenicDeafness, Autosomal Recessive 15NG_031943.1:g.5149C>A; NM_133261.3:c.122C>A; NP_573568.1:p.Thr41Lys727503062163502
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